Yamada H, Ohya M, Higeta T, Kinoshita S
Childs Nerv Syst. 1987;3(1):55-7. doi: 10.1007/BF00707197.
A patient is described in whom the diagnosis of I-cell disease (mucolipidosis II) was established in early infancy. This patient developed the clinical symptoms and signs of craniosynostosis and hydrocephalus at 4 years of age. Radiological studies revealed premature closure of the metopic, coronal and sagittal sutures, and internal hydrocephalus secondary to obstruction of the cerebrospinal fluid pathway at the IV ventricle outlets. In view of the poor visual recovery in spite of surgical correction, early detection of neurological complications and their prompt managements are recommended.
本文描述了一名在婴儿早期被确诊为I型细胞病（黏脂贮积症II型）的患者。该患者在4岁时出现了颅缝早闭和脑积水的临床症状及体征。影像学研究显示额缝、冠状缝和矢状缝过早闭合，以及继发于第四脑室出口处脑脊液通路阻塞的内部脑积水。鉴于尽管进行了手术矫正，但视力恢复不佳，建议早期发现神经并发症并及时进行处理。
